Canonical Allele Identifier: CA346732210
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 483684
ClinVar RCV Id: RCV000562070 RCV000629872 RCV004527663
dbSNP Id: rs587779967
gnomAD v4: 2-47482930-G-T
MyVariant Identifiers: chr2:g.47710069G>T (hg19) chr2:g.47482930G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47482930G>T , CM000664.2:g.47482930G>T GRCh38
NC_000002.11:g.47710069G>T , CM000664.1:g.47710069G>T GRCh37
NC_000002.10:g.47563573G>T NCBI36
NG_007110.2:g.84807G>T , LRG_218:g.84807G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+2059G>T ENSP00000495641.2:n.2634+2059G>T
ENST00000233146.7:c.2786G>T MANE Select ENSP00000233146.2:p.Arg929Leu
ENST00000543555.6:c.2588G>T ENSP00000442697.1:p.Arg863Leu
ENST00000644092.1:c.*934+2059G>T ENSP00000496351.1:n.*934+2059G>T
ENST00000644900.1:c.487+2059G>T
ENST00000645339.1:c.2634+2059G>T ENSP00000496441.1:n.2634+2059G>T
ENST00000645506.1:c.2634+2059G>T ENSP00000495455.1:n.2634+2059G>T
ENST00000646415.1:c.2634+2059G>T ENSP00000495543.1:n.2634+2059G>T
ENST00000233146.6:c.2786G>T ENSP00000233146.2:p.Arg929Leu
ENST00000406134.5:c.2634+2059G>T ENSP00000384199.1:n.2634+2059G>T
ENST00000461394.5:n.75+2059G>T
ENST00000543555.5:c.2588G>T ENSP00000442697.1:p.Arg863Leu
ENST00000610696.4:c.*1182G>T ENSP00000483159.1:n.*1182G>T
ENST00000613514.4:c.*1326G>T ENSP00000484137.1:n.*1326G>T
ENST00000617333.3:c.*1552G>T ENSP00000482468.1:n.*1552G>T
ENST00000617938.4:c.*1758G>T ENSP00000481158.1:n.*1758G>T
ENST00000621359.2:c.*352G>T ENSP00000481416.1:n.*352G>T
NM_000251.2:c.2786G>T , LRG_218t1:c.2786G>T NP_000242.1:p.Arg929Leu
NM_001258281.1:c.2588G>T NP_001245210.1:p.Arg863Leu
XM_005264332.2:c.2634+2059G>T XP_005264389.2:n.2634+2059G>T
XM_011532867.1:c.2634+2059G>T XP_011531169.1:n.2634+2059G>T
XR_939685.1:n.2706+2059G>T
XM_005264332.4:c.2634+2059G>T XP_005264389.2:n.2634+2059G>T
XM_011532867.2:c.2634+2059G>T XP_011531169.1:n.2634+2059G>T
XR_001738747.2:n.2696+2059G>T
XR_939685.2:n.2696+2059G>T
NM_000251.3:c.2786G>T MANE Select NP_000242.1:p.Arg929Leu
Search 100 bp 5'
Search 100 bp 3'